Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification

Nathaniel H. Robin, Jennifer A. Scott, James E. Arnold, Jeffrey A. Goldstein, Bruce B. Shilling, Robert W. Marion, M. Michael Cohen

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are the more severe cases. These latter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy. Here we review the clinical course of seven children with PS type 3. All of these children had severe manifestations of PS; however, development was essentially normal in three, mild delay was noted in two, and moderate delay in one. Favorable outcomes in children with types 2 and 3 PS were also documented by Moore et al. [1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while children with PS types 2 and 3 have an increased risk for neurodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management. Finally, although such management should be the rule for PS types 2 and 3, it needs to be remembered that normal outcome is not the rule. The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases.

Original languageEnglish (US)
Pages (from-to)240-244
Number of pages5
JournalAmerican journal of medical genetics
Volume75
Issue number3
DOIs
StatePublished - Jan 23 1998

Keywords

  • Aggressive management
  • Cloverleaf skull
  • Developmental outcome
  • Normal development
  • Pfeiffer syndrome types 2 and 3
  • Severe Pfeiffer syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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